Interested in the #NALCN channelosome or NALCN-related conditions like CLIFAHDD?
Check out our new resource for the community, induced pluripotent stem cell (iPSC) lines derived from two patients with CLIFAHDD: sciencedirect.com/science/articl…
Work supported by @CHFforNALCN
Check out our new resource for the community, induced pluripotent stem cell (iPSC) lines derived from two patients with CLIFAHDD: sciencedirect.com/science/articl…
Work supported by @CHFforNALCN
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Daniel Calame, MD, PhD retweeted
We joined colleagues and friends at the @bcmgenetics and @bcmhouston reception at #ASHG2026 last week. Kicked off the night with opening remarks by Brendan Lee, MD, PhD. What a great night to celebrate the people behind the #science.
See you next year, #ASHG!
#Genomics #Research
See you next year, #ASHG!
#Genomics #Research
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Daniel Calame, MD, PhD retweeted
Proud moment last week at #ASHG2026: @DanielGCalame, MD, PhD presented new findings showing RNPS1 haploinsufficiency causes a syndromic neurodevelopmental disorder with skeletal anomalies. #Genomics #RareDisease #GREGoR
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Honored to be part of an excellent ASHG session. Thanks again to the organizer and @GeneticsSociety for the opportunity to speak about our BCM @GREGoR_research work!
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Daniel Calame, MD, PhD retweeted
📢Catch the HGSC team presenting TODAY at #ashg2026! 🧬
Our researchers are sharing their work in talks and posters throughout the day. Times and locations listed below. Stop by and support them. @bcmhouston @BCMFromtheLabs #Genomics
Our researchers are sharing their work in talks and posters throughout the day. Times and locations listed below. Stop by and support them. @bcmhouston @BCMFromtheLabs #Genomics
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Daniel Calame, MD, PhD retweeted
The HGSC kicked off this exciting week in Montreal, attending the annual #ASHG2026 meeting. 🧬Looking forward to hearing and sharing the latest in #genome #sequencing #research. @bcmhouston @BCMFromtheLabs
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Excited to be in Montreal for #ASHG2026!
Join us this Friday, October 23, 1:30-2:30 PM for "Decoding Malformation Syndromes: New Disease Genes Across Organ Systems."
I will speak about RNPS1 haploinsufficiency, a syndromic neurodevelopmental disorder.
Join us this Friday, October 23, 1:30-2:30 PM for "Decoding Malformation Syndromes: New Disease Genes Across Organ Systems."
I will speak about RNPS1 haploinsufficiency, a syndromic neurodevelopmental disorder.
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Happy to learn my @claudeai's AI for Science rare disease research program proposal was accepted! Let's see what we can do with $50K in credits.
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ERN-Ithaca Call for Collaboration - RNPS1-related developmental disorders
ern-ithaca.eu/our-research-a…
ern-ithaca.eu/our-research-a…
Excited to learn our abstract on a novel neurodevelopmental-skeletal spliceosomopathy was selected for a platform presentation at @GeneticsSociety 2026. Hope to see you in Montreal!
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COX14 Variants Are Associated With Mitochondrial Complex IV Deficiency Nuclear Type 10 (MC4DN10)
onlinelibrary.wiley.com/doi/10.1002/aj…
onlinelibrary.wiley.com/doi/10.1002/aj…
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ERN-ITHACA NSRP1 Call for Collaboration:
ern-ithaca.eu/our-research-a…
ern-ithaca.eu/our-research-a…
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Putting out a few calls for collaboration through ERN-ITHACA. Please reach out if interested!
FLVCR1:
ern-ithaca.eu/our-research-a…
FLVCR1:
ern-ithaca.eu/our-research-a…
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Was always amazed by Dr. Kastner’s groundbreaking work. RIP
We are saddened to announce that Dr Daniel Kastner, MD, PhD, a legendary, brilliant & kind-hearted physician and researcher passed away this Sunday. Dr Kastner will be greatly missed, but his impact is beyond measure, & everlasting. 🧡 issaid.org/news.html#29
#autoinflammatory
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Excited to learn our abstract on a novel neurodevelopmental-skeletal spliceosomopathy was selected for a platform presentation at @GeneticsSociety 2026. Hope to see you in Montreal!
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Earlier this month, I attended the @XGSociety meeting for the first time and gave a talk on "Precision therapies in neurodevelopmental disorders."
I was familiar with XGS from my work w/ Drs. Gibbs and Lupski, but the meeting still taught me so much about XGS and AHDC1...
I was familiar with XGS from my work w/ Drs. Gibbs and Lupski, but the meeting still taught me so much about XGS and AHDC1...
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...through the scientific lectures and the families. The biology of AHDC1 is complex, but the genetics is becoming clearer.
It feels like precision therapies for XGS aren't far away.
Congratulations to Xia-Gibbs Society on a great meeting!
It feels like precision therapies for XGS aren't far away.
Congratulations to Xia-Gibbs Society on a great meeting!
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Daniel Calame, MD, PhD retweeted
Today in @ScienceTM, we report the use of in vivo adenine base editing to correct a variant causing Dravet syndrome, a severe childhood epilepsy and neurodevelopmental disorder, substantially ameliorating disease symptoms and extending lifespan in an animal model.
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drive.google.com/file/d/12rcxew…
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drive.google.com/file/d/12rcxew…
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Sharing another rare disease Facebook group for families with #NEDSSBA / #NSRP1-related disorders: facebook.com/groups/6143241…
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If you or a family member has a #RAB1A-related disorder, consider joining a new Facebook group to connect with others: facebook.com/groups/8493464…
#hereditaryspasticparaplegia #HSP @SpasticWorld
#hereditaryspasticparaplegia #HSP @SpasticWorld
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